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Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs

SIMPLE SUMMARY: Progressive retinal atrophy (PRA) in English cocker spaniels (ECSs) is associated with progressive rod–cone degeneration (prcd-PRA), an inherited autosomal recessive disease caused by the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene. Data regarding the prev...

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Autores principales: Andrade, Larissa R., Caceres, Amanda M., Trecenti, Anelize S., Brandão, Claudia Valeria S., Gandolfi, Micaella G., Aguiar, Evian V., Andrade, Danilo G.A., Borges, Alexandre S., Oliveira-Filho, Jose P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826964/
https://www.ncbi.nlm.nih.gov/pubmed/31640229
http://dx.doi.org/10.3390/ani9100844
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author Andrade, Larissa R.
Caceres, Amanda M.
Trecenti, Anelize S.
Brandão, Claudia Valeria S.
Gandolfi, Micaella G.
Aguiar, Evian V.
Andrade, Danilo G.A.
Borges, Alexandre S.
Oliveira-Filho, Jose P.
author_facet Andrade, Larissa R.
Caceres, Amanda M.
Trecenti, Anelize S.
Brandão, Claudia Valeria S.
Gandolfi, Micaella G.
Aguiar, Evian V.
Andrade, Danilo G.A.
Borges, Alexandre S.
Oliveira-Filho, Jose P.
author_sort Andrade, Larissa R.
collection PubMed
description SIMPLE SUMMARY: Progressive retinal atrophy (PRA) in English cocker spaniels (ECSs) is associated with progressive rod–cone degeneration (prcd-PRA), an inherited autosomal recessive disease caused by the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene. Data regarding the prevalence of the mutated allele are scarce in the global literature, and there is no study evaluating this frequency in Brazil. Therefore, the aim of this study was to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene responsible for progressive retinal atrophy (prcd-PRA) in ECS dogs. ABSTRACT: Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA.
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spelling pubmed-68269642019-11-18 Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs Andrade, Larissa R. Caceres, Amanda M. Trecenti, Anelize S. Brandão, Claudia Valeria S. Gandolfi, Micaella G. Aguiar, Evian V. Andrade, Danilo G.A. Borges, Alexandre S. Oliveira-Filho, Jose P. Animals (Basel) Article SIMPLE SUMMARY: Progressive retinal atrophy (PRA) in English cocker spaniels (ECSs) is associated with progressive rod–cone degeneration (prcd-PRA), an inherited autosomal recessive disease caused by the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene. Data regarding the prevalence of the mutated allele are scarce in the global literature, and there is no study evaluating this frequency in Brazil. Therefore, the aim of this study was to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene responsible for progressive retinal atrophy (prcd-PRA) in ECS dogs. ABSTRACT: Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA. MDPI 2019-10-21 /pmc/articles/PMC6826964/ /pubmed/31640229 http://dx.doi.org/10.3390/ani9100844 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Andrade, Larissa R.
Caceres, Amanda M.
Trecenti, Anelize S.
Brandão, Claudia Valeria S.
Gandolfi, Micaella G.
Aguiar, Evian V.
Andrade, Danilo G.A.
Borges, Alexandre S.
Oliveira-Filho, Jose P.
Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs
title Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs
title_full Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs
title_fullStr Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs
title_full_unstemmed Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs
title_short Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs
title_sort allele frequency of the c.5g>a mutation in the prcd gene responsible for progressive retinal atrophy in english cocker spaniel dogs
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826964/
https://www.ncbi.nlm.nih.gov/pubmed/31640229
http://dx.doi.org/10.3390/ani9100844
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